Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype
| Autor: | S. Sestito, Daniela Concolino, Ludovica Volpi, Pietro Strisciuglio, G. Muzzi, Elisa Colombo, Lidia Larizza, Gaia Roversi |
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| Přispěvatelé: | Concolino, D, Roversi, G, Muzzi, Gl, Sestito, S, Colombo, Ea, Volpi, L, Larizza, L, Strisciuglio, Pietro, Muzzi, G, Colombo, E, Strisciuglio, P |
| Rok vydání: | 2010 |
| Předmět: |
Male
medicine.medical_specialty Sibling Neutropenia Poikiloderma Skin Pigmentation Short stature Skin Diseases Open Reading Frame Open Reading Frames Genetics medicine Humans Abnormalities Multiple Age of Onset Congenital Neutropenia Rothmund–Thomson syndrome Genetics (clinical) Pigmentation disorder Nuclear Protein business.industry Skin Disease Siblings GTPase-Activating Proteins Genodermatosis Rothmund-Thomson Syndrome Infant Nuclear Proteins Syndrome medicine.disease Dermatology Pedigree Phenotype Mutation Female medicine.symptom business Kostmann syndrome Human |
| Zdroj: | American journal of medical genetics. Part A. (10) |
| ISSN: | 1552-4833 |
| Popis: | We report on three sibs who have autosomal recessive Clericuzio-type poikiloderma neutropenia (PN) syndrome. Recently, this consanguineous family was reported and shown to be informative in identifying the C16orf57 gene as the causative gene for this syndrome. Here we present the clinical data in detail. PN is a distinct and recognizable entity belonging to the group of poikiloderma syndromes among which Rothmund-Thomson is perhaps the best described and understood. PN is characterized by cutaneous poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. In order to delineate the phenotype of this rare genodermatosis, the clinical presentation together with the molecular investigations in our patients are reported and compared to those from the literature. |
| Databáze: | OpenAIRE |
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